Female-Only Epilepsy

Many children have a form of epilepsy that is genetic, handed down from a parent. Female-only epileptic syndrome is a case in point. It is rare but it remains a debilitating problem. At birth babies seem to be normal, but in a few months they begin having seizures.

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Australian scientists have pinned down the genetic mutation responsible for its expression. Professor Gecz says that the 19 (PCDH19) gene is the mutation triggering the ailment. Females have two X chromosome which determines their sex. This duality of X triggers epilepsy in girls.

The main issue with female-only epilepsy is that it causes intellectual disability because seizures cause damage. A deficiency of the allopregnanolone hormone is the main factor in the onset of the ailment. This is an effect caused by the genetic disposition. When the hormone is brought back into balance at puberty permanent damage has already been done. The research continues.